ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1134+9G>A

gnomAD frequency: 0.00013  dbSNP: rs752297498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554615 SCV000652213 likely benign Neonatal-onset encephalopathy with rigidity and seizures 2023-12-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538056 SCV004751550 likely benign BRAT1-related disorder 2019-05-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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